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Protein

Protein FAM104B

Gene

FAM104B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Protein inferred from homologyi <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein FAM104B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FAM104B
Synonyms:CXorf44
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000182518.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25085 FAM104B

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5XKR9

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000182518

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134945008

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FAM104B

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002390341 – 115Protein FAM104BAdd BLAST115

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5XKR9

PRoteomics IDEntifications database

More...
PRIDEi
Q5XKR9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
65834
65835 [Q5XKR9-2]
65836 [Q5XKR9-3]

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000182518 Expressed in 169 organ(s), highest expression level in right uterine tube

CleanEx database of gene expression profiles

More...
CleanExi
HS_FAM104B

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5XKR9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049082

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
124757, 1 interactor

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q5XKR9

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the FAM104 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410JG5T Eukaryota
ENOG411174T LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000001055

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231053

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG059882

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5XKR9

Identification of Orthologs from Complete Genome Data

More...
OMAi
CINIPER

Database of Orthologous Groups

More...
OrthoDBi
1629457at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5XKR9

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029222 FAM104

The PANTHER Classification System

More...
PANTHERi
PTHR34763 PTHR34763, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15434 FAM104, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q5XKR9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGGCPVRKRR RNGSKEGNHH STQPKRNKRN PIFQDSQDTE FSWSDNERSS
60 70 80 90 100
SRINIPERAS GPEGNLNQIV TEPDANFPQF LHEGLSKPVY VINWFMSFGP
110
EIKLNTSQQG RNQAV
Length:115
Mass (Da):13,109
Last modified:November 23, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i44F92B3FDDC77CDB
GO
Isoform 2 (identifier: Q5XKR9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     40-40: E → EV

Show »
Length:116
Mass (Da):13,209
Checksum:i1DB4AC79F2EED1B0
GO
Isoform 3 (identifier: Q5XKR9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     40-40: E → EV
     85-115: LSKPVYVINWFMSFGPEIKLNTSQQGRNQAV → YVPCQGLYSHINQTLKEAHFNSLQQRGQAPT

Show »
Length:116
Mass (Da):13,185
Checksum:i570D92AB058DCFBE
GO
Isoform 4 (identifier: Q5XKR9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: MGGCPV → MTC
     85-115: LSKPVYVINWFMSFGPEIKLNTSQQGRNQAV → YVPCQGLYSHINQTLKEAHFNSLQQRGQAPT

Note: No experimental confirmation available.
Show »
Length:112
Mass (Da):12,877
Checksum:i5C9AE3EEDAA50568
GO
Isoform 5 (identifier: Q5XKR9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     41-115: FSWSDNERSS...TSQQGRNQAV → VAIFME

Note: No experimental confirmation available.
Show »
Length:46
Mass (Da):5,339
Checksum:i6EB8CFB2A4B55901
GO
Isoform 6 (identifier: Q5XKR9-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-7: MGGCPVR → MLVLWL
     85-115: LSKPVYVINWFMSFGPEIKLNTSQQGRNQAV → YVPCQGLYSHINQTLKEAHFNSLQQRGQAPT

Note: No experimental confirmation available.
Show »
Length:114
Mass (Da):13,141
Checksum:iBE864AA81D203D12
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti74D → V in BAG61768 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05579660S → G. Corresponds to variant dbSNP:rs1047037Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0466441 – 7MGGCPVR → MLVLWL in isoform 6. Curated7
Alternative sequenceiVSP_0449761 – 6MGGCPV → MTC in isoform 4. 1 Publication6
Alternative sequenceiVSP_01907840E → EV in isoform 2 and isoform 3. 1 Publication1
Alternative sequenceiVSP_04664541 – 115FSWSD…RNQAV → VAIFME in isoform 5. CuratedAdd BLAST75
Alternative sequenceiVSP_01907985 – 115LSKPV…RNQAV → YVPCQGLYSHINQTLKEAHF NSLQQRGQAPT in isoform 3, isoform 4 and isoform 6. 2 PublicationsAdd BLAST31

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK299935 mRNA Translation: BAG61768.1
AL590240 Genomic DNA No translation available.
CH471154 Genomic DNA Translation: EAW93218.1
BC000919 mRNA Translation: AAH00919.2
BC006406 mRNA Translation: AAH06406.2
BC017571 mRNA Translation: AAH17571.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS35305.2 [Q5XKR9-1]
CCDS55422.1 [Q5XKR9-6]
CCDS55423.1 [Q5XKR9-4]
CCDS55424.1 [Q5XKR9-5]
CCDS55425.1 [Q5XKR9-3]
CCDS55426.1 [Q5XKR9-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001160171.1, NM_001166699.1 [Q5XKR9-2]
NP_001160172.1, NM_001166700.1 [Q5XKR9-3]
NP_001160174.1, NM_001166702.1 [Q5XKR9-4]
NP_001160175.1, NM_001166703.1 [Q5XKR9-6]
NP_001160176.1, NM_001166704.1 [Q5XKR9-5]
NP_612371.2, NM_138362.3 [Q5XKR9-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.415414

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000332132; ENSP00000333394; ENSG00000182518 [Q5XKR9-2]
ENST00000358460; ENSP00000364101; ENSG00000182518 [Q5XKR9-1]
ENST00000425133; ENSP00000397188; ENSG00000182518 [Q5XKR9-3]
ENST00000472571; ENSP00000420895; ENSG00000182518 [Q5XKR9-5]
ENST00000477847; ENSP00000421161; ENSG00000182518 [Q5XKR9-4]
ENST00000489298; ENSP00000423164; ENSG00000182518 [Q5XKR9-6]

Database of genes from NCBI RefSeq genomes

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GeneIDi
90736

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:90736

UCSC genome browser

More...
UCSCi
uc004dug.2 human [Q5XKR9-1]

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK299935 mRNA Translation: BAG61768.1
AL590240 Genomic DNA No translation available.
CH471154 Genomic DNA Translation: EAW93218.1
BC000919 mRNA Translation: AAH00919.2
BC006406 mRNA Translation: AAH06406.2
BC017571 mRNA Translation: AAH17571.1
CCDSiCCDS35305.2 [Q5XKR9-1]
CCDS55422.1 [Q5XKR9-6]
CCDS55423.1 [Q5XKR9-4]
CCDS55424.1 [Q5XKR9-5]
CCDS55425.1 [Q5XKR9-3]
CCDS55426.1 [Q5XKR9-2]
RefSeqiNP_001160171.1, NM_001166699.1 [Q5XKR9-2]
NP_001160172.1, NM_001166700.1 [Q5XKR9-3]
NP_001160174.1, NM_001166702.1 [Q5XKR9-4]
NP_001160175.1, NM_001166703.1 [Q5XKR9-6]
NP_001160176.1, NM_001166704.1 [Q5XKR9-5]
NP_612371.2, NM_138362.3 [Q5XKR9-1]
UniGeneiHs.415414

3D structure databases

ProteinModelPortaliQ5XKR9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124757, 1 interactor

Polymorphism and mutation databases

BioMutaiFAM104B

Proteomic databases

PaxDbiQ5XKR9
PRIDEiQ5XKR9
ProteomicsDBi65834
65835 [Q5XKR9-2]
65836 [Q5XKR9-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
90736
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332132; ENSP00000333394; ENSG00000182518 [Q5XKR9-2]
ENST00000358460; ENSP00000364101; ENSG00000182518 [Q5XKR9-1]
ENST00000425133; ENSP00000397188; ENSG00000182518 [Q5XKR9-3]
ENST00000472571; ENSP00000420895; ENSG00000182518 [Q5XKR9-5]
ENST00000477847; ENSP00000421161; ENSG00000182518 [Q5XKR9-4]
ENST00000489298; ENSP00000423164; ENSG00000182518 [Q5XKR9-6]
GeneIDi90736
KEGGihsa:90736
UCSCiuc004dug.2 human [Q5XKR9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
90736
EuPathDBiHostDB:ENSG00000182518.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FAM104B
HGNCiHGNC:25085 FAM104B
HPAiHPA049082
neXtProtiNX_Q5XKR9
OpenTargetsiENSG00000182518
PharmGKBiPA134945008

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410JG5T Eukaryota
ENOG411174T LUCA
GeneTreeiENSGT00390000001055
HOGENOMiHOG000231053
HOVERGENiHBG059882
InParanoidiQ5XKR9
OMAiCINIPER
OrthoDBi1629457at2759
PhylomeDBiQ5XKR9

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
90736

Protein Ontology

More...
PROi
PR:Q5XKR9

Gene expression databases

BgeeiENSG00000182518 Expressed in 169 organ(s), highest expression level in right uterine tube
CleanExiHS_FAM104B
GenevisibleiQ5XKR9 HS

Family and domain databases

InterProiView protein in InterPro
IPR029222 FAM104
PANTHERiPTHR34763 PTHR34763, 1 hit
PfamiView protein in Pfam
PF15434 FAM104, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiF104B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5XKR9
Secondary accession number(s): A6NEH1
, B4DSV6, D6R9S5, D6RDJ5, E9PH40, Q8WVU5, Q9BRA1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: November 23, 2004
Last modified: January 16, 2019
This is version 96 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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